Incidental Mutation 'R4905:Atp8b2'
| ID |
378085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atp8b2
|
| Ensembl Gene |
ENSMUSG00000060671 |
| Gene Name |
ATPase, class I, type 8B, member 2 |
| Synonyms |
Id |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R4905 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89846795-89870645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89856315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 416
(D416E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069805]
[ENSMUST00000107396]
[ENSMUST00000168276]
[ENSMUST00000170739]
|
| AlphaFold |
P98199 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069805
AA Change: D435E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000063384
Gene: ENSMUSG00000060671
AA Change: D435E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
96 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
103 |
374 |
5.6e-18 |
PFAM |
|
Pfam:HAD
|
408 |
842 |
1.3e-17 |
PFAM |
|
Pfam:Hydrolase_like2
|
491 |
590 |
1e-11 |
PFAM |
|
Pfam:Hydrolase
|
590 |
845 |
7.9e-8 |
PFAM |
|
low complexity region
|
1133 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107396
AA Change: D416E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103019
Gene: ENSMUSG00000060671
AA Change: D416E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhoLip_ATPase_N
|
15 |
81 |
1.3e-29 |
PFAM |
|
Pfam:E1-E2_ATPase
|
81 |
351 |
2.7e-9 |
PFAM |
|
Pfam:HAD
|
389 |
847 |
1.5e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
472 |
571 |
4.3e-12 |
PFAM |
|
Pfam:PhoLip_ATPase_C
|
864 |
1118 |
2e-84 |
PFAM |
|
low complexity region
|
1138 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1172 |
1195 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166705
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168276
AA Change: D416E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128423
Gene: ENSMUSG00000060671
AA Change: D416E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
61 |
77 |
N/A |
INTRINSIC |
|
Pfam:E1-E2_ATPase
|
84 |
355 |
2.5e-18 |
PFAM |
|
Pfam:HAD
|
389 |
823 |
7.9e-18 |
PFAM |
|
Pfam:Hydrolase_like2
|
472 |
571 |
3.6e-12 |
PFAM |
|
Pfam:Hydrolase
|
571 |
826 |
6.5e-8 |
PFAM |
|
low complexity region
|
1114 |
1128 |
N/A |
INTRINSIC |
|
low complexity region
|
1148 |
1171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170324
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170739
|
| SMART Domains |
Protein: ENSMUSP00000127720
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase_like2
|
1 |
82 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171941
|
| SMART Domains |
Protein: ENSMUSP00000130545
Gene: ENSMUSG00000060671
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HAD
|
2 |
158 |
3.3e-8 |
PFAM |
|
Pfam:Hydrolase_3
|
124 |
167 |
1.7e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
A |
T |
10: 100,448,680 (GRCm39) |
|
probably null |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abcc5 |
A |
G |
16: 20,218,678 (GRCm39) |
S235P |
probably damaging |
Het |
| Abcc6 |
T |
C |
7: 45,644,649 (GRCm39) |
N842S |
probably benign |
Het |
| Acbd6 |
G |
A |
1: 155,500,669 (GRCm39) |
V210I |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,576,192 (GRCm39) |
V2130D |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,375,207 (GRCm39) |
E213G |
probably damaging |
Het |
| Alyref |
T |
G |
11: 120,486,879 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
G |
T |
5: 122,955,973 (GRCm39) |
N152K |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,508,454 (GRCm39) |
V354E |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,364,162 (GRCm39) |
E844G |
probably damaging |
Het |
| Bmp1 |
C |
T |
14: 70,728,802 (GRCm39) |
R590H |
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,254 (GRCm39) |
S233P |
possibly damaging |
Het |
| Cdca7 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
2: 72,312,205 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,644,623 (GRCm39) |
S1222P |
probably damaging |
Het |
| Dhfr |
G |
A |
13: 92,502,282 (GRCm39) |
G118S |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,764,950 (GRCm39) |
R1414* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,614,269 (GRCm39) |
D315G |
probably benign |
Het |
| Eogt |
T |
C |
6: 97,119,792 (GRCm39) |
R139G |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,856,408 (GRCm39) |
K2065M |
possibly damaging |
Het |
| Fh1 |
C |
T |
1: 175,446,639 (GRCm39) |
G79E |
probably damaging |
Het |
| Gabrg3 |
A |
G |
7: 56,374,304 (GRCm39) |
Y421H |
probably damaging |
Het |
| Glipr1 |
C |
A |
10: 111,821,545 (GRCm39) |
R219L |
probably damaging |
Het |
| Gm1123 |
T |
C |
9: 98,891,369 (GRCm39) |
D360G |
probably benign |
Het |
| Ift81 |
C |
T |
5: 122,729,142 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
A |
G |
12: 4,684,583 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
A |
T |
9: 21,198,998 (GRCm39) |
H55Q |
probably benign |
Het |
| Mcidas |
C |
A |
13: 113,130,951 (GRCm39) |
A92E |
possibly damaging |
Het |
| Mcidas |
C |
T |
13: 113,134,038 (GRCm39) |
T174M |
possibly damaging |
Het |
| Mmp25 |
C |
A |
17: 23,863,022 (GRCm39) |
G130* |
probably null |
Het |
| Myh11 |
G |
A |
16: 14,068,387 (GRCm39) |
T211M |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,800,298 (GRCm39) |
D1458G |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,139,104 (GRCm39) |
T154A |
probably damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,068,039 (GRCm39) |
I620T |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,572,329 (GRCm39) |
Y134F |
probably benign |
Het |
| Nup50l |
T |
A |
6: 96,142,911 (GRCm39) |
R44S |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,613 (GRCm39) |
N300S |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,721 (GRCm39) |
I36N |
probably damaging |
Het |
| Or5b106 |
C |
A |
19: 13,123,541 (GRCm39) |
A161S |
probably benign |
Het |
| Or6c209 |
T |
A |
10: 129,483,792 (GRCm39) |
V265E |
possibly damaging |
Het |
| Pax9 |
G |
T |
12: 56,743,411 (GRCm39) |
R19S |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Plxnb2 |
G |
T |
15: 89,041,614 (GRCm39) |
T1730K |
probably damaging |
Het |
| Rac1 |
A |
G |
5: 143,502,907 (GRCm39) |
|
probably null |
Het |
| Samsn1 |
G |
T |
16: 75,673,353 (GRCm39) |
F174L |
possibly damaging |
Het |
| Scaf1 |
G |
A |
7: 44,662,129 (GRCm39) |
T86M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,950,428 (GRCm39) |
Y1199H |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,069,308 (GRCm39) |
I2826T |
probably benign |
Het |
| Tex36 |
A |
G |
7: 133,189,182 (GRCm39) |
V130A |
probably damaging |
Het |
| Tigd5 |
A |
G |
15: 75,783,252 (GRCm39) |
H538R |
probably damaging |
Het |
| Tlr3 |
C |
A |
8: 45,852,260 (GRCm39) |
|
probably null |
Het |
| Tubb2b |
A |
T |
13: 34,312,187 (GRCm39) |
I202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,587,674 (GRCm39) |
V1453A |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,507,071 (GRCm39) |
T608S |
probably benign |
Het |
| Vrk1 |
C |
A |
12: 106,018,087 (GRCm39) |
H119N |
probably damaging |
Het |
| Wdr53 |
T |
A |
16: 32,075,476 (GRCm39) |
M227K |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,875,746 (GRCm39) |
D129G |
possibly damaging |
Het |
| Zcchc4 |
T |
C |
5: 52,953,992 (GRCm39) |
I224T |
probably damaging |
Het |
| Zdhhc1 |
T |
A |
8: 106,210,326 (GRCm39) |
E30D |
probably damaging |
Het |
| Zscan29 |
C |
G |
2: 120,991,864 (GRCm39) |
R540T |
possibly damaging |
Het |
|
| Other mutations in Atp8b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Atp8b2
|
APN |
3 |
89,857,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Atp8b2
|
APN |
3 |
89,861,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Atp8b2
|
APN |
3 |
89,861,896 (GRCm39) |
splice site |
probably null |
|
|
IGL03057:Atp8b2
|
APN |
3 |
89,851,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Atp8b2
|
APN |
3 |
89,865,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Atp8b2
|
APN |
3 |
89,855,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Atp8b2
|
UTSW |
3 |
89,866,368 (GRCm39) |
splice site |
probably benign |
|
|
R0784:Atp8b2
|
UTSW |
3 |
89,864,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1249:Atp8b2
|
UTSW |
3 |
89,855,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1447:Atp8b2
|
UTSW |
3 |
89,851,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1568:Atp8b2
|
UTSW |
3 |
89,857,155 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1647:Atp8b2
|
UTSW |
3 |
89,849,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1736:Atp8b2
|
UTSW |
3 |
89,860,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1907:Atp8b2
|
UTSW |
3 |
89,853,583 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2656:Atp8b2
|
UTSW |
3 |
89,849,065 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2888:Atp8b2
|
UTSW |
3 |
89,865,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Atp8b2
|
UTSW |
3 |
89,852,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3708:Atp8b2
|
UTSW |
3 |
89,852,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3740:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3741:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3742:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R3896:Atp8b2
|
UTSW |
3 |
89,864,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3914:Atp8b2
|
UTSW |
3 |
89,861,755 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4536:Atp8b2
|
UTSW |
3 |
89,849,091 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4770:Atp8b2
|
UTSW |
3 |
89,864,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4859:Atp8b2
|
UTSW |
3 |
89,853,287 (GRCm39) |
missense |
probably benign |
|
|
R4925:Atp8b2
|
UTSW |
3 |
89,853,930 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4955:Atp8b2
|
UTSW |
3 |
89,860,227 (GRCm39) |
unclassified |
probably benign |
|
|
R5433:Atp8b2
|
UTSW |
3 |
89,860,216 (GRCm39) |
unclassified |
probably benign |
|
|
R5458:Atp8b2
|
UTSW |
3 |
89,853,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5517:Atp8b2
|
UTSW |
3 |
89,853,338 (GRCm39) |
missense |
probably benign |
|
|
R5663:Atp8b2
|
UTSW |
3 |
89,849,101 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6056:Atp8b2
|
UTSW |
3 |
89,853,528 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6821:Atp8b2
|
UTSW |
3 |
89,855,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7069:Atp8b2
|
UTSW |
3 |
89,861,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7178:Atp8b2
|
UTSW |
3 |
89,850,979 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7533:Atp8b2
|
UTSW |
3 |
89,852,831 (GRCm39) |
missense |
|
|
|
R7552:Atp8b2
|
UTSW |
3 |
89,854,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Atp8b2
|
UTSW |
3 |
89,853,527 (GRCm39) |
unclassified |
probably benign |
|
|
R8491:Atp8b2
|
UTSW |
3 |
89,865,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8827:Atp8b2
|
UTSW |
3 |
89,853,307 (GRCm39) |
missense |
|
|
|
R8913:Atp8b2
|
UTSW |
3 |
89,852,830 (GRCm39) |
missense |
|
|
|
R8996:Atp8b2
|
UTSW |
3 |
89,850,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Atp8b2
|
UTSW |
3 |
89,865,927 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9341:Atp8b2
|
UTSW |
3 |
89,855,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9343:Atp8b2
|
UTSW |
3 |
89,855,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9439:Atp8b2
|
UTSW |
3 |
89,851,492 (GRCm39) |
missense |
|
|
|
R9466:Atp8b2
|
UTSW |
3 |
89,851,484 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9590:Atp8b2
|
UTSW |
3 |
89,865,693 (GRCm39) |
nonsense |
probably null |
|
|
R9651:Atp8b2
|
UTSW |
3 |
89,865,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9739:Atp8b2
|
UTSW |
3 |
89,853,403 (GRCm39) |
missense |
probably benign |
|
|
R9778:Atp8b2
|
UTSW |
3 |
89,861,865 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Atp8b2
|
UTSW |
3 |
89,861,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGCCTCAGATGTCTAG -3'
(R):5'- AGTGAGCACTATGGCCCTTG -3'
Sequencing Primer
(F):5'- AGCCTGGGATGACCTGAAATTCTC -3'
(R):5'- CTTGTGGCCAGGTCCTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation